Article

Gene-edited primary muscle stem cells rescue dysferlin-deficient muscular dystrophy

2024-02-12

Abstract excerpt

Dystrophy-associated fer-1-like protein (dysferlin) conducts plasma membrane repair. Mutations in the DYSF gene cause a panoply of genetic muscular dystrophies. We targeted a frequent loss-of-function, DYSF exon 44, founder frameshift mutation with mRNA-mediated delivery of SpCas9 in combination with a mutation-specific sgRNA to primary muscle stem cells from two homozygous patients. We observed a consistent >60...

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Literature Corpus work: 6a13cb41-e07f-5062-b9e7-d397d34e7d1e
DOI: 10.1101/2024.02.12.579813

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